المؤلفون: Vitillo, Loriana, Anjum, Fabiha, Hewitt, Zoe, Stavish, Dylan, Laing, Owen, Baker, Duncan, Barbaric, Ivana, Coffey, Pete

المصدر: Stem Cell Reports , 18 (3) pp. 782-797. (2023)

مصطلحات موضوعية: embryonic stem cells, pluripotency, differentiation, retinal pigment epithelium, trophoblast, chromosome 20, isochromosome 20q, aneuploidy, chromosomal abnormalities, germ layers

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10167179/1/1-s2.0-S2213671123000103-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10167179/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10167179/1/1-s2.0-S2213671123000103-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10167179/

المؤلفون: Agostinho de Sousa, João Pedro, id_orcid:0 000-0001-8124-6624, Wong, Chee Wai, Dunkel, Ilona, Owens, Thomas, Voigt, Philipp, Hodgson, Adam, Baker, Duncan, Schulz, Edda G., Reik, Wolf, Smith, Austin, Rostovskaya, Maria, von Meyenn, Ferdinand, id_orcid:0 000-0001-9920-3075

المصدر: Science Advances, 9 (39)

وصف الملف: application/application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/001142340700006; http://hdl.handle.net/20.500.11850/637188

الاتاحة: https://hdl.handle.net/20.500.11850/637188
https://doi.org/10.3929/ethz-b-000637188

المؤلفون: Bowen, Jessica M., Hernandez, Monica, Johnson, Diana S., Green, Claire, Kammin, Tammy, Baker, Duncan, Keigwin, Sylvia, Makino, Seiko, Taylor, Naomi, Watson, Oliver, Wheeldon, Nigel M., Sobey, Glenda J.

المساهمون: Ehlers-Danlos Support UK Grant ref no.003

المصدر: European Journal of Human Genetics ; volume 31, issue 7, page 749-760 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-023-01343-7
https://www.nature.com/articles/s41431-023-01343-7.pdf
https://www.nature.com/articles/s41431-023-01343-7

المؤلفون: Baker, Duncan I.

مصطلحات موضوعية: 629.892

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.428293

المؤلفون: Strang-Karlsson, Sonja, Keigwin, Sylvia, Anttonen, Anna-Kaisa, Baker, Duncan, Bean, Kerry, Jakkula, Eveliina

المساهمون: HUSLAB, Clinicum, University of Helsinki, HUS Diagnostic Center, Department of Medical and Clinical Genetics, Helsinki University Hospital Area, Medicum, Tutkimusryhmä Anna-Elina Lehesjoki, Faculty Common Matters (Faculty of Medicine)

مصطلحات موضوعية: collagen type V. Ehlers-Danlos syndrome, germline mosaicism, gonosomal mosaicism, SOMATIC MOSAICISM, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: This study was funded by state funding for university-level health research in Finland; University of Helsinki.; Strang-Karlsson , S , Keigwin , S , Anttonen , A-K , Baker , D , Bean , K & Jakkula , E 2022 , ' Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome : A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism ' , Clinical Case Reports , vol. 10 , no. 10 , 06455 . https://doi.org/10.1002/ccr3.6455; http://hdl.handle.net/10138/350270; 311f8bfe-add6-449b-82c2-7e77c06307d7; 000865818600001

الاتاحة: http://hdl.handle.net/10138/350270

المؤلفون: Steventon‐Jones, Victoria, Stavish, Dylan, Halliwell, Jason A., Baker, Duncan, Barbaric, Ivana

المصدر: Current Protocols ; volume 2, issue 11 ; ISSN 2691-1299 2691-1299

الاتاحة: http://dx.doi.org/10.1002/cpz1.606
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cpz1.606
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/cpz1.606
https://currentprotocols.onlinelibrary.wiley.com/doi/pdf/10.1002/cpz1.606

المؤلفون: Strang‐Karlsson, Sonja, Keigwin, Sylvia, Anttonen, Anna‐Kaisa, Baker, Duncan, Bean, Kerry, Jakkula, Eveliina

المصدر: Clinical Case Reports ; volume 10, issue 10 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.6455
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6455
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ccr3.6455

المؤلفون: Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Kumar, V.K.Ajith, Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana

مصطلحات موضوعية: Article, /631/208/205, /631/208/1516, /631/208/366, /49/23

وصف الملف: text/xml; application/pdf; application/zip

Relation: https://www.repository.cam.ac.uk/handle/1810/316775

الاتاحة: https://doi.org/10.17863/CAM.63889
https://www.repository.cam.ac.uk/handle/1810/316775

المؤلفون: Halliwell, Jason A., Baker, Duncan, Judge, Kim, Quail, Michael A., Oliver, Karen, Betteridge, Emma, Skelton, Jason, Andrews, Peter W., Barbaric, Ivana

المصدر: Stem Cells and Development ; volume 30, issue 11, page 578-586 ; ISSN 1547-3287 1557-8534

الاتاحة: http://dx.doi.org/10.1089/scd.2021.0013
https://www.liebertpub.com/doi/full-xml/10.1089/scd.2021.0013
https://www.liebertpub.com/doi/pdf/10.1089/scd.2021.0013

المؤلفون: Redman, Melody G, Wagner, Bart E, Cadden, Sophie, Baker, Duncan, Bowen, Jessica M, Johnson, Diana, Sobey, Glenda, Balasubramanian, Meena

المصدر: Ultrastructural Pathology ; volume 45, issue 6, page 414-420 ; ISSN 0191-3123 1521-0758

الاتاحة: https://doi.org/10.1080/01913123.2021.1979703
https://www.tandfonline.com/doi/pdf/10.1080/01913123.2021.1979703

المؤلفون: Angwin, Chloe, Brady, Angela F, Pope, F Michael, Vandersteen, Anthony, Baker, Duncan, Cheema, Harveer, Sobey, Glenda, Johnson, Diana, von Klemperer, Kate, Kazkaz, Hanadi, van Dijk, Fleur, Ghali, Neeti

مصطلحات موضوعية: Phenotypes

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/57/11/769; http://dx.doi.org/10.1136/jmedgenet-2019-106689

الاتاحة: http://jmg.bmj.com/cgi/content/short/57/11/769
https://doi.org/10.1136/jmedgenet-2019-106689

المؤلفون: Green, Claire, Ghali, Neeti, Akilapa, Rhoda, Angwin, Chloe, Baker, Duncan, Bartlett, Marion, Bowen, Jessica, Brady, Angela F., Brock, Joanna, Chamberlain, Erin, Cheema, Harveer, McConnell, Vivienne, Crookes, Renarta, Kazkaz, Hanadi, Johnson, Diana, Pope, F. Michael, Vandersteen, Anthony, Sobey, Glenda, van Dijk, Fleur S.

المصدر: Genetics in Medicine ; volume 22, issue 10, page 1576-1582 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-0850-1
http://www.nature.com/articles/s41436-020-0850-1.pdf
http://www.nature.com/articles/s41436-020-0850-1
https://api.elsevier.com/content/article/PII:S1098360021007449?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007449?httpAccept=text/plain

المؤلفون: Pridgeon, Chris S., Forootan, Shiva Seyed, Zhang, Fang, Harper, Nicholas, Palmer, Daniel, Weightmann, Richard, Gregory, Sian, Hewitt, Zoe, Baker, Duncan, Halliwell, Jason, Moore, Harry, Ricci, Emanuele, Andrews, Peter W., Poptani, Harish, Hay, David C., Park, B. Kevin, Goldring, Chris E. P.

المصدر: J Stem Cells Regen Med

مصطلحات موضوعية: Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::38ac0613c44b5f9638346a12271dfe65
https://europepmc.org/articles/PMC10290816/

المؤلفون: Bredenkamp, Nicholas, Yang, Jian, Clarke, James, Stirparo, Giuliano G., von Meyenn, Ferdinand, id_orcid:0 000-0001-9920-3075, Dietmann, Sabine, Baker, Duncan, Drummond, Rosalind, Ren, Yongming, Li, Dongwei, Wu, Chuman, Rostovskaya, Maria, Eminli-Meissner, Sarah, Smith, Austin, Guo, Ge

المصدر: Stem Cell Reports, 13

مصطلحات موضوعية: RNA-mediated reprogramming, Human pluripotent stem cells, Wnt signaling, naive pluripotency, molecular reprogramming human pre-implantation epiblast, Induced pluripotent stem cells

وصف الملف: application/application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/000502098700011; http://hdl.handle.net/20.500.11850/377412

الاتاحة: https://hdl.handle.net/20.500.11850/377412
https://doi.org/10.3929/ethz-b-000377412

المؤلفون: Ghali, Neeti, Baker, Duncan, Brady, Angela F., Burrows, Nigel, Cervi, Elena, Cilliers, Deirdre, Frank, Michael, Germain, Dominique P., Hulmes, David J.S., Jacquemont, Marie-line, Kannu, Peter, Lefroy, Henrietta, Legrand, Anne, Pope, F. Michael, Robertson, Lisa, Vandersteen, Anthony, von Klemperer, Kate, Warburton, Renarta, Whiteford, Margo, van Dijk, Fleur S.

المصدر: Genetics in Medicine ; volume 21, issue 9, page 2081-2091 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-019-0470-9
http://www.nature.com/articles/s41436-019-0470-9.pdf
http://www.nature.com/articles/s41436-019-0470-9
https://api.elsevier.com/content/article/PII:S1098360021050115?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021050115?httpAccept=text/plain

المؤلفون: Harris, Juliette, Bartlett, Marion, Baker, Duncan, Berlin, Cheryl, Bowen, Jessica, Cummings, Carole, Fallows, Christina, Green, Claire, Griffin, Jared, Julier, Kay, Kammin, Tammy, Sehra, Ravinder, Stacey, Clare, Cobben, Jan, Ghali, Neeti, Johnson, Diana, Sobey, Glenda, van Dijk, Fleur S

المصدر: Journal of Community Genetics ; volume 14, issue 2, page 115-119 ; ISSN 1868-6001

الاتاحة: http://dx.doi.org/10.1007/s12687-023-00640-4
https://link.springer.com/content/pdf/10.1007/s12687-023-00640-4.pdf
https://link.springer.com/article/10.1007/s12687-023-00640-4/fulltext.html

المؤلفون: Agostinho de Sousa, João, Wong, Chee-Wai, Dunkel, Ilona, Owens, Thomas, Voigt, Philipp, Hodgson, Adam, Baker, Duncan, Schulz, Edda G., Reik, Wolf, Smith, Austin, Rostovskaya, Maria, von Meyenn, Ferdinand

المصدر: Science Advances ; volume 9, issue 39 ; ISSN 2375-2548

الاتاحة: http://dx.doi.org/10.1126/sciadv.adg1936
https://www.science.org/doi/pdf/10.1126/sciadv.adg1936

المؤلفون: Wilkinson, Niamh R., Cervi, Elena, Wagner, Bart, Morris-Rosendahl, Deborah, Baker, Duncan, Flora, Harpaul, von Klemperer, Kate, Andrew, Toby, Ghali, Neeti, van Dijk, Fleur S.

المصدر: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p

المؤلفون: Aflatoonian, Behrouz, Ruban, Ludmila, Shamsuddin, Shamsul, Baker, Duncan, Andrews, Peter, Moore, Harry

المصدر: In Vitro Cellular & Developmental Biology. Animal, 2010 Mar 01. 46(3/4), 236-241.

URL الوصول: https://www.jstor.org/stable/40663802

المؤلفون: Thornley, Patrick, Bishop, Nicholas, Baker, Duncan, Brock, Joanna, Arundel, Paul, Burren, Christine, Smithson, Sarah, DeVile, Catherine, Crowe, Belinda, Allgrove, Jeremy, Saraff, Vrinda, Shaw, Nick, Balasubramanian, Meena

المصدر: Thornley , P , Bishop , N , Baker , D , Brock , J , Arundel , P , Burren , C , Smithson , S , DeVile , C , Crowe , B , Allgrove , J , Saraff , V , Shaw , N & Balasubramanian , M 2022 , ' Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children : a single-country observational cohort study ' , Archives of Disease in Childhood , vol. 107 , no. 5 , pp. 486-490 . https://doi.org/10.1136/archdischild-2021-322911

مصطلحات موضوعية: child health, epidemiology, genetics, paediatrics

Relation: https://research-information.bris.ac.uk/en/publications/b9a3b90f-f8a0-4766-a5b0-a9ba781ff35e

الاتاحة: https://hdl.handle.net/1983/b9a3b90f-f8a0-4766-a5b0-a9ba781ff35e
https://research-information.bris.ac.uk/en/publications/b9a3b90f-f8a0-4766-a5b0-a9ba781ff35e
https://doi.org/10.1136/archdischild-2021-322911
http://www.scopus.com/inward/record.url?scp=85128801100&partnerID=8YFLogxK